CV Ruxandra Bachmann-Gagescu
Table of contents
Short CV
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Since July 2017: SNSF Assistant Professor
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2013-2017: SNSF Ambizione Junior Group Leader. Ciliopathy project hosted in the laboratory of Prof Stephan Neuhauss, Zurich, Switzerland.
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2011-2012: Acting Assistant Professor and attending physician in Medical Genetics, Seattle Children’s Hospital / University of Washington Department of Pediatrics, Seattle, USA.
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2008 - 2011: Residency and Research Fellowship Medical Genetics, University of Washington, Seattle, USA.
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2004 - 2007: Residency and Fellowship Pediatrics, Geneva University Hospital, Switzerland.
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2001- 2003: Postdoctoral Research, lab of Dr Cecilia Moens, Fred Hutchinson Cancer Research Center, Seattle, Washington.
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1998 – 2001: Residency Pediatrics, Geneva University Hospital, Switzerland.
Degrees
- 2012: FMH Medical Genetics (Swiss Board Certification)
- 2011: American Board of Medical Genetics
- 2007: FMH Pediatrics (Swiss Board Certification)
- 2001: Medical doctoral Thesis, University of Geneva School of Medicine: Diagnostic prénatal des cardiopathies congénitales par échocardiographie fœtale et leur suivi postnatal à Genève
- 1998: M.D., University of Geneva School of Medicine
All Publications Prof. Bachmann-Gagescu on ZORA
ZORA Publication List
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Publications
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Ciliary control of meiotic chromosomal pairing mechanics and germ cell morphogenesis. bioRxiv 430249, Cold Spring Harbor Laboratory.
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Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome. Journal of Clinical Investigation, 130(8):4423-4439.
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Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome. Journal of Clinical Investigation, 130(8):4423-4439.
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Healthcare recommendations for Joubert syndrome. American Journal of Medical Genetics. Part A, 182(1):229-249.
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ARMC9 and TOGARAM1 define a Joubert syndrome-associated protein module that regulates axonemal post-translational modifications and cilium stability. bioRxiv 817213, Cold Spring Harbor Laboratory.
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Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly. Genetics in Medicine, 21(9):2043-2058.
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A new mouse model for the neurodevelopmental ciliopathy Joubert syndrome. Journal of Pathology, 248(4):393-395.
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The photoreceptor cilium and its diseases. Current Opinion in Genetics & Development, 56:22-33.
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Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder. American Journal of Human Genetics, 104(4):701-708.
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Génétique médicale: Conséquences du diagnostic génétique «next generation». Swiss Medical Forum, 18(1-2):16-18.
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Correlative super-resolution and electron microscopy to resolve protein localization in zebrafish retina. Journal of Visualized Experiments, 129:e56113.
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Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish. American Journal of Human Genetics, 101(1):23-36.
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Mortality in Joubert syndrome. American Journal of Medical Genetics. Part A, 173(5):1237-1242.
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NINL and DZANK1 co-function in vesicle transport and are essential for photoreceptor development in Zebrafish. PLoS Genetics, 11(10):e1005574.